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118 related items for PubMed ID: 38258666

  • 1. Two pregnancies of an ornithine carbamoyltransferase deficiency disease carrier and review of the literature.
    Arhip L, Agreda J, Serrano-Moreno C, Motilla de la Cámara M, Carrascal Fabián ML, Bielza A, Velasco Gimeno C, Camblor M, Bretón Lesmes I, Cuerda C.
    Nutr Hosp; 2024 Apr 26; 41(2):489-509. PubMed ID: 38258666
    [Abstract] [Full Text] [Related]

  • 2. Management of ornithine transcarbamylase deficiency in pregnancy.
    Mendez-Figueroa H, Lamance K, Sutton VR, Aagaard-Tillery K, Van den Veyver I.
    Am J Perinatol; 2010 Nov 26; 27(10):775-84. PubMed ID: 20458665
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  • 3. Prenatal treatment of ornithine transcarbamylase deficiency.
    Wilnai Y, Blumenfeld YJ, Cusmano K, Hintz SR, Alcorn D, Benitz WE, Berquist WE, Bernstein JA, Castillo RO, Concepcion W, Cowan TM, Cox KL, Lyell DJ, Esquivel CO, Homeyer M, Hudgins L, Hurwitz M, Palma JP, Schelley S, Akula VP, Summar ML, Enns GM.
    Mol Genet Metab; 2018 Mar 26; 123(3):297-300. PubMed ID: 29396029
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  • 5. Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids.
    Lipskind S, Loanzon S, Simi E, Ouyang DW.
    J Perinatol; 2011 Oct 26; 31(10):682-4. PubMed ID: 21956151
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  • 6. Hyperammonemia in ornithine transcarbamylase-deficient recipients following living donor liver transplantation from heterozygous carrier donors.
    Rahayatri TH, Uchida H, Sasaki K, Shigeta T, Hirata Y, Kanazawa H, Mali V, Fukuda A, Sakamoto S, Kasahara M.
    Pediatr Transplant; 2017 Feb 26; 21(1):. PubMed ID: 27891735
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  • 8. Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
    Sen K, Izem R, Long Y, Jiang J, Konczal LL, McCarter RJ, Members of the Urea Cycle Disorders Consortium (UCDC), Gropman AL, Bedoyan JK.
    Mol Genet Genomic Med; 2024 Apr 26; 12(4):e2443. PubMed ID: 38634223
    [Abstract] [Full Text] [Related]

  • 9. Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.
    Siri B, Olivieri G, Lepri FR, Poms M, Goffredo BM, Commone A, Novelli A, Häberle J, Dionisi-Vici C.
    Orphanet J Rare Dis; 2024 Jan 02; 19(1):3. PubMed ID: 38167094
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  • 10. An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency.
    Quintero-Rivera F, Deignan JL, Peredo J, Grody WW, Crandall B, Sims M, Cederbaum SD.
    Mol Genet Metab; 2010 Dec 02; 101(4):413-6. PubMed ID: 20817516
    [Abstract] [Full Text] [Related]

  • 11. An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency.
    Scaglia F, Zheng Q, O'Brien WE, Henry J, Rosenberger J, Reeds P, Lee B.
    Pediatrics; 2002 Jan 02; 109(1):150-2. PubMed ID: 11773558
    [Abstract] [Full Text] [Related]

  • 12. A simple screening method for heterozygous female patients with ornithine transcarbamylase deficiency.
    Iijima H, Kubota M.
    Mol Genet Metab; 2022 Nov 02; 137(3):301-307. PubMed ID: 36252454
    [Abstract] [Full Text] [Related]

  • 13. Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency.
    Krijt J, Sokolová J, Ješina P, Dvořáková L, Řeboun M, Brennerová K, Mistrík M, Zeman J, Honzík T, Kožich V.
    Clin Chem Lab Med; 2017 Jul 26; 55(8):1168-1177. PubMed ID: 28107167
    [Abstract] [Full Text] [Related]

  • 14. Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations.
    Gao J, Gao F, Hong F, Yu H, Jiang P.
    Am J Emerg Med; 2015 Mar 26; 33(3):474.e1-3. PubMed ID: 25227973
    [Abstract] [Full Text] [Related]

  • 15. Ornithine transcarbamylase deficiency in pregnancy.
    Cordero DR, Baker J, Dorinzi D, Toffle R.
    J Inherit Metab Dis; 2005 Mar 26; 28(2):237-40. PubMed ID: 15877212
    [Abstract] [Full Text] [Related]

  • 16. Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China.
    Yuan G, Liu Z, Chen Z, Zhang X, Zhang W, Chen D.
    Ital J Pediatr; 2024 Sep 11; 50(1):171. PubMed ID: 39256843
    [Abstract] [Full Text] [Related]

  • 17. Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
    Cavicchi C, Donati M, Parini R, Rigoldi M, Bernardi M, Orfei F, Gentiloni Silveri N, Colasante A, Funghini S, Catarzi S, Pasquini E, la Marca G, Mooney S, Guerrini R, Morrone A.
    Orphanet J Rare Dis; 2014 Jul 16; 9():105. PubMed ID: 25026867
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  • 18. Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency.
    Li S, Cai Y, Shi C, Liu M, Liu B, Lin L, Xiao X, Hao H.
    Med Sci Monit; 2018 Oct 18; 24():7431-7437. PubMed ID: 30333473
    [Abstract] [Full Text] [Related]

  • 19. A novel mutation of the ornithine transcarbamylase gene leading to fatal hyperammonemia in a liver transplant recipient.
    Mukhtar A, Dabbous H, El Sayed R, Aboulfetouh F, Bahaa M, Abdelaal A, Fathy M, El-Meteini M.
    Am J Transplant; 2013 Apr 18; 13(4):1084-1087. PubMed ID: 23551631
    [Abstract] [Full Text] [Related]

  • 20. Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.
    Shao Y, Jiang M, Lin Y, Mei H, Zhang W, Cai Y, Su X, Hu H, Li X, Liu L.
    Clin Genet; 2017 Sep 18; 92(3):318-322. PubMed ID: 28266016
    [Abstract] [Full Text] [Related]

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